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Gene | MLH1 |
Variant | I655T |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | MLH1 I655T lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). I655T results in mismatch repair activity comparable to wild-type in yeast assays and in an in vitro assay (PMID: 17510385), and therefore, is predicted to have no effect on Mlh1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 I655T |
Transcript | NM_000249.4 |
gDNA | chr3:g.37048584T>C |
cDNA | c.1964T>C |
Protein | p.I655T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249.4 | chr3:g.37048584T>C | c.1964T>C | p.I655T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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